R37W (p.Arg37Trp) variant of GNA11 (P29992)
R37W (p.Arg37Trp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- gnomAD 19-3094760-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.76
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available